CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia

Neurology. 2016 Mar 1;86(9):877-8. doi: 10.1212/WNL.0000000000002422. Epub 2016 Feb 3.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Comorbidity
  • Cystatin B / genetics*
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics*
  • Dyskinesias / diagnosis
  • Dyskinesias / genetics*
  • Genetic Association Studies
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Incidence
  • Infant
  • Male
  • Microcephaly / diagnosis*
  • Microcephaly / genetics*
  • Mutation / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Risk Assessment

Substances

  • CSTB protein, human
  • Genetic Markers
  • Cystatin B